Associated Papers
Impact of Genetic Testing Using Gene Panels, Exomes, and Genome Sequencing in Romanian Children with Epilepsy.
Sabau IM et al.
International Journal of Molecular Sciences, 2025
40429983 (PubMed )
Supplement: ijms-26-04843-s001.zip › positive_Supplementary.xlsx › Causative_variants
Neonatal developmental and epileptic encephalopathy with movement disorders and arthrogryposis: A case report with a novel missense variant of SCN1A.
Okubo Y et al.
Brain & Development, 2023
The gain of function SCN1A disorder spectrum: novel epilepsy phenotypes and therapeutic implications.
Brunklaus A et al.
Brain : a Journal of Neurology, 2022
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